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Phenotypes Associated with This Genotype
involves: C3H/HeJ * C57BL/6J
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phenotype observed in females
phenotype observed in males
N normal phenotype
• within 14-21 days of onset of motor problems and disease onset, mutants rapidly progress to death most likely due to inability to feed and drink

nervous system
• average age of onset of clinical abnormalities is 15.7 +/- 4.2 months, however 50% of mutants fail to develop disease at 24 months of age
• neuropathological abnormalities develop before motor dysfunction is visible
• astroglial reaction is seen in the midbrain, deep cerebellar nuclei, brainstem and spinal cord, indicating neurodegeneration, but not in the cortex, hippocampus, thalamus, and caudate/putamen
• mutants exhibit accumulation of ubiquitin and phosphorylated Nefh (NF-H) in perikarya and neurites
• affected neurons contain fibrillar inclusions
• abnormal neuronal accumulations are not seen in mutants younger than 4 months of age
• mutants exhibit accumulation of alpha-synuclein in neuronal cell bodies and neurites of the midbrain, cerebellum, brainstem and spinal cord
• spinal cord exhibits astrocytic response and ubiquitin and alpha- synuclein accumulation in ventral horn motor neurons
• mutants develop adult-onset neurodegenerative disease
• astroglial reaction is seen in the midbrain, deep cerebellar nuclei, brainstem and spinal cord, indicating neurodegeneration

• mutants develop motor signs characterized by sustained posturing, reduced amplitude, and abundance of spontaneous activity with age
• mutants eventually develop progressive loss of righting reflex
• mutants eventually develop paralysis


Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal dominant Parkinson disease 1 DOID:0060367 OMIM:168601

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.08
The Jackson Laboratory